Incidental Mutation 'R7916:Nlrp3'
ID |
648093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp3
|
Ensembl Gene |
ENSMUSG00000032691 |
Gene Name |
NLR family, pyrin domain containing 3 |
Synonyms |
Mmig1, Cias1, NALP3, cryopyrin, Pypaf1 |
MMRRC Submission |
045964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7916 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59442689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 747
(D747G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
AlphaFold |
Q8R4B8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079476
AA Change: D747G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000078440 Gene: ENSMUSG00000032691 AA Change: D747G
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
LRR
|
766 |
793 |
5.13e1 |
SMART |
LRR
|
794 |
821 |
3.86e-7 |
SMART |
LRR
|
823 |
850 |
1.62e0 |
SMART |
LRR
|
851 |
878 |
3.39e-3 |
SMART |
LRR
|
880 |
907 |
1.2e2 |
SMART |
LRR
|
908 |
935 |
2.24e-3 |
SMART |
LRR
|
937 |
964 |
2.16e2 |
SMART |
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101148
AA Change: D747G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000098707 Gene: ENSMUSG00000032691 AA Change: D747G
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
LRR
|
766 |
793 |
5.13e1 |
SMART |
LRR
|
794 |
821 |
3.86e-7 |
SMART |
LRR
|
823 |
850 |
1.62e0 |
SMART |
LRR
|
851 |
878 |
3.39e-3 |
SMART |
LRR
|
880 |
907 |
1.2e2 |
SMART |
LRR
|
908 |
935 |
2.24e-3 |
SMART |
LRR
|
937 |
964 |
2.16e2 |
SMART |
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149126
|
SMART Domains |
Protein: ENSMUSP00000114231 Gene: ENSMUSG00000032691
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
Pfam:FISNA
|
135 |
173 |
1.6e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [provided by MGI curators]
|
Allele List at MGI |
All alleles(13) : Targeted(9) Chemically induced(4)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
A |
16: 4,682,454 (GRCm39) |
L195* |
probably null |
Het |
Ahnak |
T |
G |
19: 8,983,196 (GRCm39) |
D1493E |
possibly damaging |
Het |
Alox12e |
C |
A |
11: 70,212,111 (GRCm39) |
R162L |
probably benign |
Het |
Bax |
T |
G |
7: 45,115,539 (GRCm39) |
Q32P |
probably benign |
Het |
Cand1 |
A |
G |
10: 119,052,493 (GRCm39) |
M204T |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,761,684 (GRCm39) |
Y2256* |
probably null |
Het |
Chuk |
A |
G |
19: 44,085,420 (GRCm39) |
I242T |
probably damaging |
Het |
Cic |
T |
C |
7: 24,987,715 (GRCm39) |
S1468P |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,142,789 (GRCm39) |
H159R |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,311,815 (GRCm39) |
K1174E |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,311,974 (GRCm39) |
|
probably null |
Het |
Dpp3 |
C |
A |
19: 4,967,052 (GRCm39) |
E351* |
probably null |
Het |
Dyrk1a |
A |
G |
16: 94,474,200 (GRCm39) |
Y319C |
probably damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,719,841 (GRCm39) |
S458P |
probably damaging |
Het |
Ehmt1 |
G |
A |
2: 24,746,708 (GRCm39) |
L425F |
probably damaging |
Het |
Emp2 |
C |
A |
16: 10,102,437 (GRCm39) |
R125L |
possibly damaging |
Het |
Farsb |
A |
G |
1: 78,435,200 (GRCm39) |
|
probably null |
Het |
Frk |
A |
T |
10: 34,360,021 (GRCm39) |
R7S |
possibly damaging |
Het |
Glb1l2 |
T |
C |
9: 26,678,720 (GRCm39) |
T483A |
probably benign |
Het |
Gm5773 |
T |
C |
3: 93,680,586 (GRCm39) |
V86A |
possibly damaging |
Het |
Gm7324 |
T |
G |
14: 43,952,003 (GRCm39) |
D215E |
probably benign |
Het |
Gng13 |
A |
T |
17: 25,937,932 (GRCm39) |
K44* |
probably null |
Het |
Gprin1 |
C |
T |
13: 54,887,263 (GRCm39) |
G337D |
possibly damaging |
Het |
Ighv1-84 |
G |
T |
12: 115,944,609 (GRCm39) |
Q22K |
probably benign |
Het |
Il20rb |
T |
C |
9: 100,348,304 (GRCm39) |
H210R |
probably benign |
Het |
Iqcm |
C |
T |
8: 76,304,578 (GRCm39) |
S113L |
probably benign |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kmo |
G |
T |
1: 175,487,236 (GRCm39) |
G430W |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Ldhd |
T |
G |
8: 112,356,023 (GRCm39) |
D120A |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,821,657 (GRCm39) |
S1344P |
possibly damaging |
Het |
Mb |
T |
A |
15: 76,900,257 (GRCm39) |
I112F |
probably damaging |
Het |
Mbd5 |
G |
A |
2: 49,147,118 (GRCm39) |
V443M |
probably damaging |
Het |
Milr1 |
A |
G |
11: 106,654,688 (GRCm39) |
K180R |
possibly damaging |
Het |
Mst1r |
T |
C |
9: 107,784,777 (GRCm39) |
F145S |
probably damaging |
Het |
Mthfd2 |
A |
T |
6: 83,286,455 (GRCm39) |
I251K |
possibly damaging |
Het |
Nfx1 |
T |
A |
4: 40,977,142 (GRCm39) |
M272K |
probably benign |
Het |
Odr4 |
C |
T |
1: 150,260,249 (GRCm39) |
R123K |
probably benign |
Het |
Or2y1 |
A |
T |
11: 49,385,543 (GRCm39) |
Y61F |
probably benign |
Het |
Or5p60 |
C |
A |
7: 107,724,329 (GRCm39) |
S47I |
possibly damaging |
Het |
Or8k18 |
A |
T |
2: 86,085,202 (GRCm39) |
Y278* |
probably null |
Het |
Pcdha11 |
A |
G |
18: 37,140,441 (GRCm39) |
E690G |
probably benign |
Het |
Pcdhga4 |
T |
A |
18: 37,818,502 (GRCm39) |
I17N |
probably benign |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,129,858 (GRCm39) |
K477E |
probably damaging |
Het |
Pik3c2b |
T |
A |
1: 133,028,642 (GRCm39) |
I1377N |
probably benign |
Het |
Polr3h |
T |
C |
15: 81,806,613 (GRCm39) |
K69E |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,368,641 (GRCm39) |
H280R |
possibly damaging |
Het |
Rpp40 |
C |
A |
13: 36,086,034 (GRCm39) |
R132L |
probably benign |
Het |
Ryr1 |
G |
A |
7: 28,790,364 (GRCm39) |
Q1488* |
probably null |
Het |
Sh3bp1 |
A |
G |
15: 78,791,421 (GRCm39) |
M403V |
probably benign |
Het |
Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,074,979 (GRCm39) |
N1517K |
possibly damaging |
Het |
Srek1ip1 |
T |
A |
13: 104,973,981 (GRCm39) |
H129Q |
possibly damaging |
Het |
Thumpd2 |
A |
T |
17: 81,334,116 (GRCm39) |
C491S |
probably benign |
Het |
Tle3 |
A |
T |
9: 61,314,410 (GRCm39) |
N204I |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,862,167 (GRCm39) |
V677A |
probably benign |
Het |
Topaz1 |
T |
G |
9: 122,576,499 (GRCm39) |
L30R |
probably benign |
Het |
Trim35 |
T |
A |
14: 66,546,309 (GRCm39) |
C359S |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,774,865 (GRCm39) |
V2105G |
unknown |
Het |
Ube2o |
A |
G |
11: 116,471,884 (GRCm39) |
V119A |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,279,308 (GRCm39) |
|
probably null |
Het |
Uhmk1 |
A |
G |
1: 170,032,757 (GRCm39) |
V347A |
possibly damaging |
Het |
Utp4 |
C |
T |
8: 107,649,497 (GRCm39) |
P649S |
probably damaging |
Het |
Vmn2r28 |
G |
A |
7: 5,483,818 (GRCm39) |
T794I |
probably damaging |
Het |
Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
Xpot |
C |
A |
10: 121,458,848 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
C |
T |
13: 67,768,294 (GRCm39) |
R645H |
probably benign |
Het |
|
Other mutations in Nlrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Nlrp3
|
APN |
11 |
59,456,769 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Nlrp3
|
APN |
11 |
59,455,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01025:Nlrp3
|
APN |
11 |
59,442,713 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01637:Nlrp3
|
APN |
11 |
59,440,204 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02010:Nlrp3
|
APN |
11 |
59,440,361 (GRCm39) |
missense |
probably benign |
|
IGL02334:Nlrp3
|
APN |
11 |
59,455,909 (GRCm39) |
missense |
probably benign |
|
IGL02417:Nlrp3
|
APN |
11 |
59,456,849 (GRCm39) |
unclassified |
probably benign |
|
IGL02578:Nlrp3
|
APN |
11 |
59,439,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02710:Nlrp3
|
APN |
11 |
59,456,802 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02816:Nlrp3
|
APN |
11 |
59,446,608 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03157:Nlrp3
|
APN |
11 |
59,440,372 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03334:Nlrp3
|
APN |
11 |
59,439,842 (GRCm39) |
missense |
probably damaging |
1.00 |
Flogiston
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
nd1
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
Nd14
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
Nd3
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
nd5
|
UTSW |
11 |
59,456,705 (GRCm39) |
missense |
probably benign |
0.01 |
nd6
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
nd7
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
Nd9
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
Park2
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
Park3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
Park4
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
Park5
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
Park6
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
Park7
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
Park8
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
R0052:Nlrp3
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
R0362:Nlrp3
|
UTSW |
11 |
59,439,623 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0416:Nlrp3
|
UTSW |
11 |
59,446,750 (GRCm39) |
splice site |
probably benign |
|
R0649:Nlrp3
|
UTSW |
11 |
59,439,368 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0740:Nlrp3
|
UTSW |
11 |
59,439,082 (GRCm39) |
missense |
probably benign |
0.01 |
R0863:Nlrp3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
R1300:Nlrp3
|
UTSW |
11 |
59,446,594 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1414:Nlrp3
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
R1622:Nlrp3
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1654:Nlrp3
|
UTSW |
11 |
59,433,949 (GRCm39) |
missense |
probably benign |
0.03 |
R1715:Nlrp3
|
UTSW |
11 |
59,434,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Nlrp3
|
UTSW |
11 |
59,449,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1837:Nlrp3
|
UTSW |
11 |
59,439,742 (GRCm39) |
missense |
probably benign |
0.00 |
R1905:Nlrp3
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Nlrp3
|
UTSW |
11 |
59,439,962 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4296:Nlrp3
|
UTSW |
11 |
59,440,487 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4305:Nlrp3
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
R4540:Nlrp3
|
UTSW |
11 |
59,442,725 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4591:Nlrp3
|
UTSW |
11 |
59,440,048 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Nlrp3
|
UTSW |
11 |
59,439,127 (GRCm39) |
missense |
probably benign |
0.32 |
R4913:Nlrp3
|
UTSW |
11 |
59,440,064 (GRCm39) |
missense |
probably benign |
0.09 |
R4970:Nlrp3
|
UTSW |
11 |
59,439,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5051:Nlrp3
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
R5112:Nlrp3
|
UTSW |
11 |
59,439,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Nlrp3
|
UTSW |
11 |
59,455,910 (GRCm39) |
missense |
probably benign |
0.05 |
R5417:Nlrp3
|
UTSW |
11 |
59,439,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R5709:Nlrp3
|
UTSW |
11 |
59,446,574 (GRCm39) |
nonsense |
probably null |
|
R5869:Nlrp3
|
UTSW |
11 |
59,438,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5898:Nlrp3
|
UTSW |
11 |
59,437,678 (GRCm39) |
missense |
probably benign |
0.00 |
R5953:Nlrp3
|
UTSW |
11 |
59,437,617 (GRCm39) |
missense |
probably benign |
|
R5979:Nlrp3
|
UTSW |
11 |
59,439,797 (GRCm39) |
missense |
probably benign |
0.06 |
R6359:Nlrp3
|
UTSW |
11 |
59,439,392 (GRCm39) |
missense |
probably damaging |
0.97 |
R6723:Nlrp3
|
UTSW |
11 |
59,456,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Nlrp3
|
UTSW |
11 |
59,439,272 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7349:Nlrp3
|
UTSW |
11 |
59,438,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Nlrp3
|
UTSW |
11 |
59,455,892 (GRCm39) |
missense |
probably benign |
0.00 |
R7715:Nlrp3
|
UTSW |
11 |
59,433,829 (GRCm39) |
splice site |
probably null |
|
R8222:Nlrp3
|
UTSW |
11 |
59,439,614 (GRCm39) |
missense |
probably damaging |
0.98 |
R8360:Nlrp3
|
UTSW |
11 |
59,440,229 (GRCm39) |
missense |
probably benign |
0.02 |
R8390:Nlrp3
|
UTSW |
11 |
59,442,616 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8550:Nlrp3
|
UTSW |
11 |
59,440,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Nlrp3
|
UTSW |
11 |
59,440,216 (GRCm39) |
missense |
probably benign |
0.00 |
R8940:Nlrp3
|
UTSW |
11 |
59,455,870 (GRCm39) |
missense |
probably benign |
0.26 |
R8990:Nlrp3
|
UTSW |
11 |
59,439,584 (GRCm39) |
missense |
probably damaging |
0.99 |
R9324:Nlrp3
|
UTSW |
11 |
59,434,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9673:Nlrp3
|
UTSW |
11 |
59,440,148 (GRCm39) |
missense |
probably damaging |
1.00 |
RF031:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
RF040:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
Z1088:Nlrp3
|
UTSW |
11 |
59,442,686 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- CTATGAACAGGTGCCAGGATCC -3'
(R):5'- GAAGCGATATTCTCCCAAACG -3'
Sequencing Primer
(F):5'- AGGATCCCTGTCCTGAGCTC -3'
(R):5'- AACGCTTACTTCTTAGTTCATTGGG -3'
|
Posted On |
2020-09-15 |